Developmental disorder associated with increased cellular nucleotidase activity
نویسندگان
چکیده
منابع مشابه
Developmental disorder associated with increased cellular nucleotidase activity.
Four unrelated patients are described with a syndrome that included developmental delay, seizures, ataxia, recurrent infections, severe language deficit, and an unusual behavioral phenotype characterized by hyperactivity, short attention span, and poor social interaction. These manifestations appeared within the first few years of life. Each patient displayed abnormalities on EEG. No unusual me...
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An RNA phosphodiesterase of molecular weight about 100,000 was purified 330-fold from the cell-free culture fluid of a Bacillus species grown on RNA as the sole source of phosphorus. In the presence of Mg2f or Mn2+, this nuclease catalyzes hydrolysis of high molecular weight RNA and synthetic polyribonucleotides, but not of DNA, dinucleoside monophosphates, 2’,3’or 3’,5’-cyclic nucleotides or a...
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Clearance of cellular debris is a critical feature of the developing nervous system, as evidenced by the severe neurological consequences of lysosomal storage diseases in children. An important developmental process, which generates considerable cellular debris, is synapse elimination, in which many axonal branches are pruned. The fate of these pruned branches is not known. Here, we investigate...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1997
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.94.21.11601